The c.738dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 738, causing a translational frameshift with a predicted alternate stop codon (p.N247Efs*4). While this exact alteration has not been reported in the literature, another mutation resulting in a stop codon at the same position, c.742dupA (also known as c.862insA), was detected in 1/989 unrelated individuals from a cohort of German breast/ovarian cancer families (Meindl A et al. Int. J. Cancer, 2002 Feb;97:472-80). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.738dup (p.Asn247fs)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.738dup (p.Asn247fs)
Variation ID: 827009 Accession: VCV000827009.5
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094792-43094793 (GRCh38) [ NCBI UCSC ] 17: 41246809-41246810 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 16, 2020 May 1, 2024 Mar 21, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.738dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asn247fs frameshift NM_001407571.1:c.525dup NP_001394500.1:p.Asn176Glufs frameshift NM_001407581.1:c.738dup NP_001394510.1:p.Asn247Glufs frameshift NM_001407582.1:c.738dup NP_001394511.1:p.Asn247Glufs frameshift NM_001407583.1:c.738dup NP_001394512.1:p.Asn247Glufs frameshift NM_001407585.1:c.738dup NP_001394514.1:p.Asn247Glufs frameshift NM_001407587.1:c.735dup NP_001394516.1:p.Asn246Glufs frameshift NM_001407590.1:c.735dup NP_001394519.1:p.Asn246Glufs frameshift NM_001407591.1:c.735dup NP_001394520.1:p.Asn246Glufs frameshift NM_001407593.1:c.738dup NP_001394522.1:p.Asn247Glufs frameshift NM_001407594.1:c.738dup NP_001394523.1:p.Asn247Glufs frameshift NM_001407596.1:c.738dup NP_001394525.1:p.Asn247Glufs frameshift NM_001407597.1:c.738dup NP_001394526.1:p.Asn247Glufs frameshift NM_001407598.1:c.738dup NP_001394527.1:p.Asn247Glufs frameshift NM_001407602.1:c.738dup NP_001394531.1:p.Asn247Glufs frameshift NM_001407603.1:c.738dup NP_001394532.1:p.Asn247Glufs frameshift NM_001407605.1:c.738dup NP_001394534.1:p.Asn247Glufs frameshift NM_001407610.1:c.735dup NP_001394539.1:p.Asn246Glufs frameshift NM_001407611.1:c.735dup NP_001394540.1:p.Asn246Glufs frameshift NM_001407612.1:c.735dup NP_001394541.1:p.Asn246Glufs frameshift NM_001407613.1:c.735dup NP_001394542.1:p.Asn246Glufs frameshift NM_001407614.1:c.735dup NP_001394543.1:p.Asn246Glufs frameshift NM_001407615.1:c.735dup NP_001394544.1:p.Asn246Glufs frameshift NM_001407616.1:c.738dup NP_001394545.1:p.Asn247Glufs frameshift NM_001407617.1:c.738dup NP_001394546.1:p.Asn247Glufs frameshift NM_001407618.1:c.738dup NP_001394547.1:p.Asn247Glufs frameshift NM_001407619.1:c.738dup NP_001394548.1:p.Asn247Glufs frameshift NM_001407620.1:c.738dup NP_001394549.1:p.Asn247Glufs frameshift NM_001407621.1:c.738dup NP_001394550.1:p.Asn247Glufs frameshift NM_001407622.1:c.738dup NP_001394551.1:p.Asn247Glufs frameshift NM_001407623.1:c.738dup NP_001394552.1:p.Asn247Glufs frameshift NM_001407624.1:c.738dup NP_001394553.1:p.Asn247Glufs frameshift NM_001407625.1:c.738dup NP_001394554.1:p.Asn247Glufs frameshift NM_001407626.1:c.738dup NP_001394555.1:p.Asn247Glufs frameshift NM_001407627.1:c.735dup NP_001394556.1:p.Asn246Glufs frameshift NM_001407628.1:c.735dup NP_001394557.1:p.Asn246Glufs frameshift NM_001407629.1:c.735dup NP_001394558.1:p.Asn246Glufs frameshift NM_001407630.1:c.735dup NP_001394559.1:p.Asn246Glufs frameshift NM_001407631.1:c.735dup NP_001394560.1:p.Asn246Glufs frameshift NM_001407632.1:c.735dup NP_001394561.1:p.Asn246Glufs frameshift NM_001407633.1:c.735dup NP_001394562.1:p.Asn246Glufs frameshift NM_001407634.1:c.735dup NP_001394563.1:p.Asn246Glufs frameshift NM_001407635.1:c.735dup NP_001394564.1:p.Asn246Glufs frameshift NM_001407636.1:c.735dup NP_001394565.1:p.Asn246Glufs frameshift NM_001407637.1:c.735dup NP_001394566.1:p.Asn246Glufs frameshift NM_001407638.1:c.735dup NP_001394567.1:p.Asn246Glufs frameshift NM_001407639.1:c.738dup NP_001394568.1:p.Asn247Glufs frameshift NM_001407640.1:c.738dup NP_001394569.1:p.Asn247Glufs frameshift NM_001407641.1:c.738dup NP_001394570.1:p.Asn247Glufs frameshift NM_001407642.1:c.738dup NP_001394571.1:p.Asn247Glufs frameshift NM_001407644.1:c.735dup NP_001394573.1:p.Asn246Glufs frameshift NM_001407645.1:c.735dup NP_001394574.1:p.Asn246Glufs frameshift NM_001407646.1:c.729dup NP_001394575.1:p.Asn244Glufs frameshift NM_001407647.1:c.729dup NP_001394576.1:p.Asn244Glufs frameshift NM_001407648.1:c.615dup NP_001394577.1:p.Asn206Glufs frameshift NM_001407649.1:c.612dup NP_001394578.1:p.Asn205Glufs frameshift NM_001407652.1:c.738dup NP_001394581.1:p.Asn247Glufs frameshift NM_001407653.1:c.660dup NP_001394582.1:p.Asn221Glufs frameshift NM_001407654.1:c.660dup NP_001394583.1:p.Asn221Glufs frameshift NM_001407655.1:c.660dup NP_001394584.1:p.Asn221Glufs frameshift NM_001407656.1:c.660dup NP_001394585.1:p.Asn221Glufs frameshift NM_001407657.1:c.660dup NP_001394586.1:p.Asn221Glufs frameshift NM_001407658.1:c.660dup NP_001394587.1:p.Asn221Glufs frameshift NM_001407659.1:c.657dup NP_001394588.1:p.Asn220Glufs frameshift NM_001407660.1:c.657dup NP_001394589.1:p.Asn220Glufs frameshift NM_001407661.1:c.657dup NP_001394590.1:p.Asn220Glufs frameshift NM_001407662.1:c.657dup NP_001394591.1:p.Asn220Glufs frameshift NM_001407663.1:c.660dup NP_001394592.1:p.Asn221Glufs frameshift NM_001407664.1:c.615dup NP_001394593.1:p.Asn206Glufs frameshift NM_001407665.1:c.615dup NP_001394594.1:p.Asn206Glufs frameshift NM_001407666.1:c.615dup NP_001394595.1:p.Asn206Glufs frameshift NM_001407667.1:c.615dup NP_001394596.1:p.Asn206Glufs frameshift NM_001407668.1:c.615dup NP_001394597.1:p.Asn206Glufs frameshift NM_001407669.1:c.615dup NP_001394598.1:p.Asn206Glufs frameshift NM_001407670.1:c.612dup NP_001394599.1:p.Asn205Glufs frameshift NM_001407671.1:c.612dup NP_001394600.1:p.Asn205Glufs frameshift NM_001407672.1:c.612dup NP_001394601.1:p.Asn205Glufs frameshift NM_001407673.1:c.612dup NP_001394602.1:p.Asn205Glufs frameshift NM_001407674.1:c.615dup NP_001394603.1:p.Asn206Glufs frameshift NM_001407675.1:c.615dup NP_001394604.1:p.Asn206Glufs frameshift NM_001407676.1:c.615dup NP_001394605.1:p.Asn206Glufs frameshift NM_001407677.1:c.615dup NP_001394606.1:p.Asn206Glufs frameshift NM_001407678.1:c.615dup NP_001394607.1:p.Asn206Glufs frameshift NM_001407679.1:c.615dup NP_001394608.1:p.Asn206Glufs frameshift NM_001407680.1:c.615dup NP_001394609.1:p.Asn206Glufs frameshift NM_001407681.1:c.615dup NP_001394610.1:p.Asn206Glufs frameshift NM_001407682.1:c.615dup NP_001394611.1:p.Asn206Glufs frameshift NM_001407683.1:c.615dup NP_001394612.1:p.Asn206Glufs frameshift NM_001407684.1:c.738dup NP_001394613.1:p.Asn247Glufs frameshift NM_001407685.1:c.612dup NP_001394614.1:p.Asn205Glufs frameshift NM_001407686.1:c.612dup NP_001394615.1:p.Asn205Glufs frameshift NM_001407687.1:c.612dup NP_001394616.1:p.Asn205Glufs frameshift NM_001407688.1:c.612dup NP_001394617.1:p.Asn205Glufs frameshift NM_001407689.1:c.612dup NP_001394618.1:p.Asn205Glufs frameshift NM_001407690.1:c.612dup NP_001394619.1:p.Asn205Glufs frameshift NM_001407691.1:c.612dup NP_001394620.1:p.Asn205Glufs frameshift NM_001407692.1:c.597dup NP_001394621.1:p.Asn200Glufs frameshift NM_001407694.1:c.597dup NP_001394623.1:p.Asn200Glufs frameshift NM_001407695.1:c.597dup NP_001394624.1:p.Asn200Glufs frameshift NM_001407696.1:c.597dup NP_001394625.1:p.Asn200Glufs frameshift NM_001407697.1:c.597dup NP_001394626.1:p.Asn200Glufs frameshift NM_001407698.1:c.597dup NP_001394627.1:p.Asn200Glufs frameshift NM_001407724.1:c.597dup NP_001394653.1:p.Asn200Glufs frameshift NM_001407725.1:c.597dup NP_001394654.1:p.Asn200Glufs frameshift NM_001407726.1:c.597dup NP_001394655.1:p.Asn200Glufs frameshift NM_001407727.1:c.597dup NP_001394656.1:p.Asn200Glufs frameshift NM_001407728.1:c.597dup NP_001394657.1:p.Asn200Glufs frameshift NM_001407729.1:c.597dup NP_001394658.1:p.Asn200Glufs frameshift NM_001407730.1:c.597dup NP_001394659.1:p.Asn200Glufs frameshift NM_001407731.1:c.597dup NP_001394660.1:p.Asn200Glufs frameshift NM_001407732.1:c.597dup NP_001394661.1:p.Asn200Glufs frameshift NM_001407733.1:c.597dup NP_001394662.1:p.Asn200Glufs frameshift NM_001407734.1:c.597dup NP_001394663.1:p.Asn200Glufs frameshift NM_001407735.1:c.597dup NP_001394664.1:p.Asn200Glufs frameshift NM_001407736.1:c.597dup NP_001394665.1:p.Asn200Glufs frameshift NM_001407737.1:c.597dup NP_001394666.1:p.Asn200Glufs frameshift NM_001407738.1:c.597dup NP_001394667.1:p.Asn200Glufs frameshift NM_001407739.1:c.597dup NP_001394668.1:p.Asn200Glufs frameshift NM_001407740.1:c.594dup NP_001394669.1:p.Asn199Glufs frameshift NM_001407741.1:c.594dup NP_001394670.1:p.Asn199Glufs frameshift NM_001407742.1:c.594dup NP_001394671.1:p.Asn199Glufs frameshift NM_001407743.1:c.594dup NP_001394672.1:p.Asn199Glufs frameshift NM_001407744.1:c.594dup NP_001394673.1:p.Asn199Glufs frameshift NM_001407745.1:c.594dup NP_001394674.1:p.Asn199Glufs frameshift NM_001407746.1:c.594dup NP_001394675.1:p.Asn199Glufs frameshift NM_001407747.1:c.594dup NP_001394676.1:p.Asn199Glufs frameshift NM_001407748.1:c.594dup NP_001394677.1:p.Asn199Glufs frameshift NM_001407749.1:c.594dup NP_001394678.1:p.Asn199Glufs frameshift NM_001407750.1:c.597dup NP_001394679.1:p.Asn200Glufs frameshift NM_001407751.1:c.597dup NP_001394680.1:p.Asn200Glufs frameshift NM_001407752.1:c.597dup NP_001394681.1:p.Asn200Glufs frameshift NM_001407838.1:c.594dup NP_001394767.1:p.Asn199Glufs frameshift NM_001407839.1:c.594dup NP_001394768.1:p.Asn199Glufs frameshift NM_001407841.1:c.594dup NP_001394770.1:p.Asn199Glufs frameshift NM_001407842.1:c.594dup NP_001394771.1:p.Asn199Glufs frameshift NM_001407843.1:c.594dup NP_001394772.1:p.Asn199Glufs frameshift NM_001407844.1:c.594dup NP_001394773.1:p.Asn199Glufs frameshift NM_001407845.1:c.594dup NP_001394774.1:p.Asn199Glufs frameshift NM_001407846.1:c.594dup NP_001394775.1:p.Asn199Glufs frameshift NM_001407847.1:c.594dup NP_001394776.1:p.Asn199Glufs frameshift NM_001407848.1:c.594dup NP_001394777.1:p.Asn199Glufs frameshift NM_001407849.1:c.594dup NP_001394778.1:p.Asn199Glufs frameshift NM_001407850.1:c.597dup NP_001394779.1:p.Asn200Glufs frameshift NM_001407851.1:c.597dup NP_001394780.1:p.Asn200Glufs frameshift NM_001407852.1:c.597dup NP_001394781.1:p.Asn200Glufs frameshift NM_001407853.1:c.525dup NP_001394782.1:p.Asn176Glufs frameshift NM_001407854.1:c.738dup NP_001394783.1:p.Asn247Glufs frameshift NM_001407858.1:c.738dup NP_001394787.1:p.Asn247Glufs frameshift NM_001407859.1:c.738dup NP_001394788.1:p.Asn247Glufs frameshift NM_001407860.1:c.735dup NP_001394789.1:p.Asn246Glufs frameshift NM_001407861.1:c.735dup NP_001394790.1:p.Asn246Glufs frameshift NM_001407862.1:c.537dup NP_001394791.1:p.Asn180Glufs frameshift NM_001407863.1:c.615dup NP_001394792.1:p.Asn206Glufs frameshift NM_001407874.1:c.534dup NP_001394803.1:p.Asn179Glufs frameshift NM_001407875.1:c.534dup NP_001394804.1:p.Asn179Glufs frameshift NM_001407879.1:c.528dup NP_001394808.1:p.Asn177Glufs frameshift NM_001407881.1:c.528dup NP_001394810.1:p.Asn177Glufs frameshift NM_001407882.1:c.528dup NP_001394811.1:p.Asn177Glufs frameshift NM_001407884.1:c.528dup NP_001394813.1:p.Asn177Glufs frameshift NM_001407885.1:c.528dup NP_001394814.1:p.Asn177Glufs frameshift NM_001407886.1:c.528dup NP_001394815.1:p.Asn177Glufs frameshift NM_001407887.1:c.528dup NP_001394816.1:p.Asn177Glufs frameshift NM_001407889.1:c.528dup NP_001394818.1:p.Asn177Glufs frameshift NM_001407894.1:c.525dup NP_001394823.1:p.Asn176Glufs frameshift NM_001407895.1:c.525dup NP_001394824.1:p.Asn176Glufs frameshift NM_001407896.1:c.525dup NP_001394825.1:p.Asn176Glufs frameshift NM_001407897.1:c.525dup NP_001394826.1:p.Asn176Glufs frameshift NM_001407898.1:c.525dup NP_001394827.1:p.Asn176Glufs frameshift NM_001407899.1:c.525dup NP_001394828.1:p.Asn176Glufs frameshift NM_001407900.1:c.528dup NP_001394829.1:p.Asn177Glufs frameshift NM_001407902.1:c.528dup NP_001394831.1:p.Asn177Glufs frameshift NM_001407904.1:c.528dup NP_001394833.1:p.Asn177Glufs frameshift NM_001407906.1:c.528dup NP_001394835.1:p.Asn177Glufs frameshift NM_001407907.1:c.528dup NP_001394836.1:p.Asn177Glufs frameshift NM_001407908.1:c.528dup NP_001394837.1:p.Asn177Glufs frameshift NM_001407909.1:c.528dup NP_001394838.1:p.Asn177Glufs frameshift NM_001407910.1:c.528dup NP_001394839.1:p.Asn177Glufs frameshift NM_001407915.1:c.525dup NP_001394844.1:p.Asn176Glufs frameshift NM_001407916.1:c.525dup NP_001394845.1:p.Asn176Glufs frameshift NM_001407917.1:c.525dup NP_001394846.1:p.Asn176Glufs frameshift NM_001407918.1:c.525dup NP_001394847.1:p.Asn176Glufs frameshift NM_001407919.1:c.615dup NP_001394848.1:p.Asn206Glufs frameshift NM_001407920.1:c.474dup NP_001394849.1:p.Asn159Glufs frameshift NM_001407921.1:c.474dup NP_001394850.1:p.Asn159Glufs frameshift NM_001407922.1:c.474dup NP_001394851.1:p.Asn159Glufs frameshift NM_001407923.1:c.474dup NP_001394852.1:p.Asn159Glufs frameshift NM_001407924.1:c.474dup NP_001394853.1:p.Asn159Glufs frameshift NM_001407925.1:c.474dup NP_001394854.1:p.Asn159Glufs frameshift NM_001407926.1:c.474dup NP_001394855.1:p.Asn159Glufs frameshift NM_001407927.1:c.474dup NP_001394856.1:p.Asn159Glufs frameshift NM_001407928.1:c.474dup NP_001394857.1:p.Asn159Glufs frameshift NM_001407929.1:c.474dup NP_001394858.1:p.Asn159Glufs frameshift NM_001407930.1:c.471dup NP_001394859.1:p.Asn158Glufs frameshift NM_001407931.1:c.471dup NP_001394860.1:p.Asn158Glufs frameshift NM_001407932.1:c.471dup NP_001394861.1:p.Asn158Glufs frameshift NM_001407933.1:c.474dup NP_001394862.1:p.Asn159Glufs frameshift NM_001407934.1:c.471dup NP_001394863.1:p.Asn158Glufs frameshift NM_001407935.1:c.474dup NP_001394864.1:p.Asn159Glufs frameshift NM_001407936.1:c.471dup NP_001394865.1:p.Asn158Glufs frameshift NM_001407937.1:c.615dup NP_001394866.1:p.Asn206Glufs frameshift NM_001407938.1:c.615dup NP_001394867.1:p.Asn206Glufs frameshift NM_001407939.1:c.615dup NP_001394868.1:p.Asn206Glufs frameshift NM_001407940.1:c.612dup NP_001394869.1:p.Asn205Glufs frameshift NM_001407941.1:c.612dup NP_001394870.1:p.Asn205Glufs frameshift NM_001407942.1:c.597dup NP_001394871.1:p.Asn200Glufs frameshift NM_001407943.1:c.594dup NP_001394872.1:p.Asn199Glufs frameshift NM_001407944.1:c.597dup NP_001394873.1:p.Asn200Glufs frameshift NM_001407945.1:c.597dup NP_001394874.1:p.Asn200Glufs frameshift NM_001407946.1:c.405dup NP_001394875.1:p.Asn136Glufs frameshift NM_001407947.1:c.405dup NP_001394876.1:p.Asn136Glufs frameshift NM_001407948.1:c.405dup NP_001394877.1:p.Asn136Glufs frameshift NM_001407949.1:c.405dup NP_001394878.1:p.Asn136Glufs frameshift NM_001407950.1:c.405dup NP_001394879.1:p.Asn136Glufs frameshift NM_001407951.1:c.405dup NP_001394880.1:p.Asn136Glufs frameshift NM_001407952.1:c.405dup NP_001394881.1:p.Asn136Glufs frameshift NM_001407953.1:c.405dup NP_001394882.1:p.Asn136Glufs frameshift NM_001407954.1:c.402dup NP_001394883.1:p.Asn135Glufs frameshift NM_001407955.1:c.402dup NP_001394884.1:p.Asn135Glufs frameshift NM_001407956.1:c.402dup NP_001394885.1:p.Asn135Glufs frameshift NM_001407957.1:c.405dup NP_001394886.1:p.Asn136Glufs frameshift NM_001407958.1:c.402dup NP_001394887.1:p.Asn135Glufs frameshift NM_001407959.1:c.357dup NP_001394888.1:p.Asn120Glufs frameshift NM_001407960.1:c.357dup NP_001394889.1:p.Asn120Glufs frameshift NM_001407962.1:c.354dup NP_001394891.1:p.Asn119Glufs frameshift NM_001407963.1:c.357dup NP_001394892.1:p.Asn120Glufs frameshift NM_001407964.1:c.594dup NP_001394893.1:p.Asn199Glufs frameshift NM_001407965.1:c.234dup NP_001394894.1:p.Asn79Glufs frameshift NM_001407966.1:c.-151dup NM_001407967.1:c.-151dup NM_001407968.1:c.738dup NP_001394897.1:p.Asn247Glufs frameshift NM_001407969.1:c.738dup NP_001394898.1:p.Asn247Glufs frameshift NM_001407970.1:c.738dup NP_001394899.1:p.Asn247Glufs frameshift NM_001407971.1:c.738dup NP_001394900.1:p.Asn247Glufs frameshift NM_001407972.1:c.735dup NP_001394901.1:p.Asn246Glufs frameshift NM_001407973.1:c.738dup NP_001394902.1:p.Asn247Glufs frameshift NM_001407974.1:c.738dup NP_001394903.1:p.Asn247Glufs frameshift NM_001407975.1:c.738dup NP_001394904.1:p.Asn247Glufs frameshift NM_001407976.1:c.738dup NP_001394905.1:p.Asn247Glufs frameshift NM_001407977.1:c.738dup NP_001394906.1:p.Asn247Glufs frameshift NM_001407978.1:c.738dup NP_001394907.1:p.Asn247Glufs frameshift NM_001407979.1:c.738dup NP_001394908.1:p.Asn247Glufs frameshift NM_001407980.1:c.738dup NP_001394909.1:p.Asn247Glufs frameshift NM_001407981.1:c.738dup NP_001394910.1:p.Asn247Glufs frameshift NM_001407982.1:c.738dup NP_001394911.1:p.Asn247Glufs frameshift NM_001407983.1:c.738dup NP_001394912.1:p.Asn247Glufs frameshift NM_001407984.1:c.735dup NP_001394913.1:p.Asn246Glufs frameshift NM_001407985.1:c.735dup NP_001394914.1:p.Asn246Glufs frameshift NM_001407986.1:c.735dup NP_001394915.1:p.Asn246Glufs frameshift NM_001407990.1:c.738dup NP_001394919.1:p.Asn247Glufs frameshift NM_001407991.1:c.735dup NP_001394920.1:p.Asn246Glufs frameshift NM_001407992.1:c.735dup NP_001394921.1:p.Asn246Glufs frameshift NM_001407993.1:c.738dup NP_001394922.1:p.Asn247Glufs frameshift NM_001408392.1:c.735dup NP_001395321.1:p.Asn246Glufs frameshift NM_001408396.1:c.735dup NP_001395325.1:p.Asn246Glufs frameshift NM_001408397.1:c.735dup NP_001395326.1:p.Asn246Glufs frameshift NM_001408398.1:c.735dup NP_001395327.1:p.Asn246Glufs frameshift NM_001408399.1:c.735dup NP_001395328.1:p.Asn246Glufs frameshift NM_001408400.1:c.735dup NP_001395329.1:p.Asn246Glufs frameshift NM_001408401.1:c.735dup NP_001395330.1:p.Asn246Glufs frameshift NM_001408402.1:c.735dup NP_001395331.1:p.Asn246Glufs frameshift NM_001408403.1:c.738dup NP_001395332.1:p.Asn247Glufs frameshift NM_001408404.1:c.738dup NP_001395333.1:p.Asn247Glufs frameshift NM_001408406.1:c.738dup NP_001395335.1:p.Asn247Glufs frameshift NM_001408407.1:c.735dup NP_001395336.1:p.Asn246Glufs frameshift NM_001408408.1:c.729dup NP_001395337.1:p.Asn244Glufs frameshift NM_001408409.1:c.660dup NP_001395338.1:p.Asn221Glufs frameshift NM_001408410.1:c.597dup NP_001395339.1:p.Asn200Glufs frameshift NM_001408411.1:c.660dup NP_001395340.1:p.Asn221Glufs frameshift NM_001408412.1:c.660dup NP_001395341.1:p.Asn221Glufs frameshift NM_001408413.1:c.657dup NP_001395342.1:p.Asn220Glufs frameshift NM_001408414.1:c.660dup NP_001395343.1:p.Asn221Glufs frameshift NM_001408415.1:c.660dup NP_001395344.1:p.Asn221Glufs frameshift NM_001408416.1:c.657dup NP_001395345.1:p.Asn220Glufs frameshift NM_001408425.1:c.615dup NP_001395354.1:p.Asn206Glufs frameshift NM_001408426.1:c.615dup NP_001395355.1:p.Asn206Glufs frameshift NM_001408427.1:c.615dup NP_001395356.1:p.Asn206Glufs frameshift NM_001408428.1:c.615dup NP_001395357.1:p.Asn206Glufs frameshift NM_001408429.1:c.615dup NP_001395358.1:p.Asn206Glufs frameshift NM_001408430.1:c.615dup NP_001395359.1:p.Asn206Glufs frameshift NM_001408432.1:c.612dup NP_001395361.1:p.Asn205Glufs frameshift NM_001408433.1:c.612dup NP_001395362.1:p.Asn205Glufs frameshift NM_001408434.1:c.612dup NP_001395363.1:p.Asn205Glufs frameshift NM_001408435.1:c.612dup NP_001395364.1:p.Asn205Glufs frameshift NM_001408436.1:c.615dup NP_001395365.1:p.Asn206Glufs frameshift NM_001408437.1:c.615dup NP_001395366.1:p.Asn206Glufs frameshift NM_001408438.1:c.615dup NP_001395367.1:p.Asn206Glufs frameshift NM_001408439.1:c.615dup NP_001395368.1:p.Asn206Glufs frameshift NM_001408440.1:c.615dup NP_001395369.1:p.Asn206Glufs frameshift NM_001408441.1:c.615dup NP_001395370.1:p.Asn206Glufs frameshift NM_001408442.1:c.615dup NP_001395371.1:p.Asn206Glufs frameshift NM_001408443.1:c.615dup NP_001395372.1:p.Asn206Glufs frameshift NM_001408444.1:c.615dup NP_001395373.1:p.Asn206Glufs frameshift NM_001408445.1:c.612dup NP_001395374.1:p.Asn205Glufs frameshift NM_001408446.1:c.612dup NP_001395375.1:p.Asn205Glufs frameshift NM_001408447.1:c.612dup NP_001395376.1:p.Asn205Glufs frameshift NM_001408448.1:c.612dup NP_001395377.1:p.Asn205Glufs frameshift NM_001408450.1:c.612dup NP_001395379.1:p.Asn205Glufs frameshift NM_001408451.1:c.603dup NP_001395380.1:p.Asn202Glufs frameshift NM_001408452.1:c.597dup NP_001395381.1:p.Asn200Glufs frameshift NM_001408453.1:c.597dup NP_001395382.1:p.Asn200Glufs frameshift NM_001408454.1:c.597dup NP_001395383.1:p.Asn200Glufs frameshift NM_001408455.1:c.597dup NP_001395384.1:p.Asn200Glufs frameshift NM_001408456.1:c.597dup NP_001395385.1:p.Asn200Glufs frameshift NM_001408457.1:c.597dup NP_001395386.1:p.Asn200Glufs frameshift NM_001408458.1:c.597dup NP_001395387.1:p.Asn200Glufs frameshift NM_001408459.1:c.597dup NP_001395388.1:p.Asn200Glufs frameshift NM_001408460.1:c.597dup NP_001395389.1:p.Asn200Glufs frameshift NM_001408461.1:c.597dup NP_001395390.1:p.Asn200Glufs frameshift NM_001408462.1:c.594dup NP_001395391.1:p.Asn199Glufs frameshift NM_001408463.1:c.594dup NP_001395392.1:p.Asn199Glufs frameshift NM_001408464.1:c.594dup NP_001395393.1:p.Asn199Glufs frameshift NM_001408465.1:c.594dup NP_001395394.1:p.Asn199Glufs frameshift NM_001408466.1:c.597dup NP_001395395.1:p.Asn200Glufs frameshift NM_001408467.1:c.597dup NP_001395396.1:p.Asn200Glufs frameshift NM_001408468.1:c.594dup NP_001395397.1:p.Asn199Glufs frameshift NM_001408469.1:c.597dup NP_001395398.1:p.Asn200Glufs frameshift NM_001408470.1:c.594dup NP_001395399.1:p.Asn199Glufs frameshift NM_001408472.1:c.738dup NP_001395401.1:p.Asn247Glufs frameshift NM_001408473.1:c.735dup NP_001395402.1:p.Asn246Glufs frameshift NM_001408474.1:c.537dup NP_001395403.1:p.Asn180Glufs frameshift NM_001408475.1:c.534dup NP_001395404.1:p.Asn179Glufs frameshift NM_001408476.1:c.537dup NP_001395405.1:p.Asn180Glufs frameshift NM_001408478.1:c.528dup NP_001395407.1:p.Asn177Glufs frameshift NM_001408479.1:c.528dup NP_001395408.1:p.Asn177Glufs frameshift NM_001408480.1:c.528dup NP_001395409.1:p.Asn177Glufs frameshift NM_001408481.1:c.528dup NP_001395410.1:p.Asn177Glufs frameshift NM_001408482.1:c.528dup NP_001395411.1:p.Asn177Glufs frameshift NM_001408483.1:c.528dup NP_001395412.1:p.Asn177Glufs frameshift NM_001408484.1:c.528dup NP_001395413.1:p.Asn177Glufs frameshift NM_001408485.1:c.528dup NP_001395414.1:p.Asn177Glufs frameshift NM_001408489.1:c.528dup NP_001395418.1:p.Asn177Glufs frameshift NM_001408490.1:c.525dup NP_001395419.1:p.Asn176Glufs frameshift NM_001408491.1:c.525dup NP_001395420.1:p.Asn176Glufs frameshift NM_001408492.1:c.528dup NP_001395421.1:p.Asn177Glufs frameshift NM_001408493.1:c.525dup NP_001395422.1:p.Asn176Glufs frameshift NM_001408496.1:c.474dup NP_001395425.1:p.Asn159Glufs frameshift NM_001408497.1:c.474dup NP_001395426.1:p.Asn159Glufs frameshift NM_001408498.1:c.474dup NP_001395427.1:p.Asn159Glufs frameshift NM_001408499.1:c.474dup NP_001395428.1:p.Asn159Glufs frameshift NM_001408500.1:c.474dup NP_001395429.1:p.Asn159Glufs frameshift NM_001408501.1:c.474dup NP_001395430.1:p.Asn159Glufs frameshift NM_001408502.1:c.405dup NP_001395431.1:p.Asn136Glufs frameshift NM_001408503.1:c.471dup NP_001395432.1:p.Asn158Glufs frameshift NM_001408504.1:c.471dup NP_001395433.1:p.Asn158Glufs frameshift NM_001408505.1:c.471dup NP_001395434.1:p.Asn158Glufs frameshift NM_001408508.1:c.402dup NP_001395437.1:p.Asn135Glufs frameshift NM_001408509.1:c.402dup NP_001395438.1:p.Asn135Glufs frameshift NM_001408510.1:c.357dup NP_001395439.1:p.Asn120Glufs frameshift NM_001408512.1:c.234dup NP_001395441.1:p.Asn79Glufs frameshift NM_001408513.1:c.528dup NP_001395442.1:p.Asn177Glufs frameshift NM_001408514.1:c.528dup NP_001395443.1:p.Asn177Glufs frameshift NM_007294.3:c.738dupG frameshift NM_007297.4:c.597dup NP_009228.2:p.Asn200fs frameshift NM_007298.4:c.738dup NP_009229.2:p.Asn247Glufs frameshift NM_007299.4:c.738dup NP_009230.2:p.Asn247fs frameshift NM_007300.4:c.738dup NP_009231.2:p.Asn247fs frameshift NM_007304.2:c.738dup NP_009235.2:p.Asn247Glufs frameshift NR_027676.2:n.915dup non-coding transcript variant NC_000017.11:g.43094793dup NC_000017.10:g.41246810dup NG_005905.2:g.123191dup LRG_292:g.123191dup LRG_292t1:c.738dup LRG_292p1:p.Asn247Glufs - Protein change
- N200fs, N247fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43094792:C:CC
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13040 | 14846 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Mar 21, 2018 | RCV001026363.4 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Mar 21, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001188727.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The c.738dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 738, causing a … (more)
The c.738dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 738, causing a translational frameshift with a predicted alternate stop codon (p.N247Efs*4). While this exact alteration has not been reported in the literature, another mutation resulting in a stop codon at the same position, c.742dupA (also known as c.862insA), was detected in 1/989 unrelated individuals from a cohort of German breast/ovarian cancer families (Meindl A et al. Int. J. Cancer, 2002 Feb;97:472-80). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.738dupG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of G at nucleotide position 738, causing a translational frameshift with a predicted alternate stop codon (p.N247Efs*4). While this exact alteration has not been reported in the literature, another mutation resulting in a stop codon at the same position, c.742dupA (also known as c.862insA), was detected in 1/989 unrelated individuals from a cohort of German breast/ovarian cancer families (Meindl A et al. Int. J. Cancer, 2002 Feb;97:472-80). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
Text-mined citations for rs1597880292 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.